Publicacións nas que colabora con Lourdes Loidi (21)

2024

  1. Bilateral Uveal Melanoma: An Insight into Genetic Predisposition in Four New Unrelated Patients and Review of Published Cases

    Journal of Clinical Medicine, Vol. 13, Núm. 11

2021

  1. Role of somatic mutations and chromosomal aberrations in the prognosis of uveal melanoma in a Spanish patient cohort

    Acta Ophthalmologica, Vol. 99, Núm. 7, pp. e1077-e1089

2010

  1. Functional consequences of seven novel mutations in the CYP11B1 gene: Four mutations associated with nonclassic and three mutations causing classic 11β-hydroxylase deficiency

    Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 2, pp. 779-788

  2. Genetic study of the hepcidin gene (HAMP) promoter and functional analysis of the c.-582A > G variant

    BMC Genetics, Vol. 11

2009

  1. Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression system.

    Human mutation, Vol. 30, Núm. 2

2008

  1. High frequency of copy number variations and sequence variants at CYP21A2 locus: Implication for the genetic diagnosis of 21-hydroxylase deficiency

    PLoS ONE, Vol. 3, Núm. 5

  2. Hypochondroplasia and acanthosis nigricans: A new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?

    European Journal of Endocrinology, Vol. 159, Núm. 3, pp. 243-249

2007

  1. A simple and robust quantitative PCR assay to determine CYP21A2 gene dose in the diagnosis of 21-hydroxylase deficiency

    Clinical Chemistry, Vol. 53, Núm. 9, pp. 1577-1584

2006

  1. High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect

    Clinical Endocrinology, Vol. 64, Núm. 3, pp. 330-336

2005

  1. Kallmann's syndrome with a novel missense mutation in the KAL1 gene that modifies the major cell adhesion site of the anosmin-1 protein

    Journal of Pediatric Endocrinology and Metabolism, Vol. 18, Núm. 6, pp. 545-548

2003

  1. Phenotypic gender differences in subjects with familial partial lipodystrophy (dunnigan variety) due to a nuclear lamin A/C R482W mutation

    Hormone and Metabolic Research, Vol. 35, Núm. 1, pp. 29-35

2002

  1. Novel mutation involving the translation initiation codon of the growth hormone receptor gene (GHR) in a patient with Laron syndrome

    Journal of Pediatric Endocrinology and Metabolism, Vol. 15, Núm. 7, pp. 1041-1045

2001

  1. LightCycler PCR assay for genotyping codon 634 mutations in the RET protooncogene [2]

    Clinical Chemistry

2000

  1. Tumour prothymosin alpha content, a potential prognostic marker for primary breast cancer

    British Journal of Cancer, Vol. 82, Núm. 3, pp. 584-590

1999

  1. Complex regulation of prothymosin alpha in mammary tumors arising in transgenic mice

    Life Sciences, Vol. 64, Núm. 23, pp. 2125-2133

  2. The C494F variant in the CYP11B1 gene is a sequence polymorphism in the Spanish population [5]

    Journal of Clinical Endocrinology and Metabolism

1998

  1. A c-myc antisense oligonucleotide inhibits human retinal pigment epithelial cell proliferation

    Experimental Eye Research, Vol. 66, Núm. 5, pp. 581-589

  2. Progress in methodology and standards in European molecular genetics laboratories

    Clinica Chimica Acta

1997

  1. Development of ELISA to estimate thymosin α1, the N terminus of prothymosin α, in human tumors

    Clinical Chemistry, Vol. 43, Núm. 1, pp. 59-63

  2. Prothymosin alpha distribution in normal and tumoral tissues

    International Journal of Thymology, Vol. 5, Núm. 8-9, pp. 474-476